Canonical Allele Identifier: CA1139767782
Gene: ACADVL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.[7222293del;7223853T>C] , CM000679.2:g.[7222293del;7223853T>C] GRCh38
NC_000017.10:g.[7125612del;7127172T>C] , CM000679.1:g.[7125612del;7127172T>C] GRCh37
NC_000017.9:g.[7066336del;7067896T>C] NCBI36
NG_007975.1:g.[7460del;9020T>C]
NG_008391.2:g.[1198A>G;2762del]

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.[869del;1310T>C] MANE Select ENSP00000349297.5:p.Gly290AlafsTer63
ENST00000322910.9:c.[*824del;*1265T>C] ENSP00000325395.5:n.[*824del;*1265T>C]
ENST00000350303.9:c.[803del;1244T>C] ENSP00000344152.5:p.Gly268AlafsTer63
ENST00000356839.9:c.[869del;1310T>C] ENSP00000349297.5:p.Gly290AlafsTer63
ENST00000543245.6:c.[938del;1379T>C] ENSP00000438689.2:p.Gly313AlafsTer63
NM_000018.3:c.[869del;1310T>C] NP_000009.1:p.Gly290AlafsTer63
NM_001033859.2:c.[803del;1244T>C] NP_001029031.1:p.Gly268AlafsTer63
NM_001270447.1:c.[938del;1379T>C] NP_001257376.1:p.Gly313AlafsTer63
NM_001270448.1:c.[641del;1082T>C] NP_001257377.1:p.Gly214AlafsTer63
XM_006721516.2:c.[869del;1310T>C] XP_006721579.2:p.Gly290AlafsTer63
XM_011523829.1:c.[869del;1310T>C] XP_011522131.1:p.Gly290AlafsTer63
XM_011523830.1:c.[869del;1310T>C] XP_011522132.1:p.Gly290AlafsTer63
XR_934021.1:n.[976del;1417T>C]
XR_934022.1:n.[976del;1417T>C]
XR_934023.1:n.[976del;1417T>C]
XM_006721516.3:c.[869del;1310T>C] XP_006721579.2:p.Gly290AlafsTer63
XM_011523829.2:c.[869del;1310T>C] XP_011522131.1:p.Gly290AlafsTer63
XM_011523830.2:c.[869del;1310T>C] XP_011522132.1:p.Gly290AlafsTer63
XM_024450741.1:c.[869del;1310T>C] XP_024306509.1:p.Gly290AlafsTer63
XR_934021.2:n.[928del;1369T>C]
XR_934022.2:n.[928del;1369T>C]
XR_934023.2:n.[928del;1369T>C]
NM_000018.4:c.[869del;1310T>C] MANE Select NP_000009.1:p.Gly290AlafsTer63
NM_001033859.3:c.[803del;1244T>C] NP_001029031.1:p.Gly268AlafsTer63
NM_001270447.2:c.[938del;1379T>C] NP_001257376.1:p.Gly313AlafsTer63
NM_001270448.2:c.[641del;1082T>C] NP_001257377.1:p.Gly214AlafsTer63